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NM_001267550.2(TTN):c.2744G>A (p.Arg915His)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Sep 30, 2021)
Last evaluated:
Mar 11, 2021
Accession:
VCV000202328.5
Variation ID:
202328
Description:
single nucleotide variant
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NM_001267550.2(TTN):c.2744G>A (p.Arg915His)

Allele ID
199750
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q31.2
Genomic location
2: 178784101 (GRCh38) GRCh38 UCSC
2: 179648828 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_391:g.51702G>A
LRG_391t1:c.2744G>A
NM_001256850.1:c.2744G>A NP_001243779.1:p.Arg915His missense
... more HGVS
Protein change
R915H, R869H
Other names
p.R915H:CGC>CAC
Canonical SPDI
NC_000002.12:178784100:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Links
ClinGen: CA309100
dbSNP: rs376922544
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Mar 11, 2021 RCV000184168.3
Uncertain significance 1 criteria provided, single submitter Jul 8, 2013 RCV000246716.1
Likely benign 1 criteria provided, single submitter Feb 14, 2020 RCV001721150.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TTN Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
7705 17950

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jul 08, 2013)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000317533.5
Submitted: (Nov 30, 2020)
Evidence details
Comment:
​The p.R915H variant (also known as c.2744G>A) is located in coding exon 15 of the TTN gene. This alteration results from a G to A … (more)
Uncertain significance
(Mar 11, 2021)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001519405.1
Submitted: (Mar 17, 2021)
Evidence details
Comment:
Variant summary: TTN c.2744G>A (p.Arg915His) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign … (more)
Likely benign
(Feb 14, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000236787.11
Submitted: (Sep 30, 2021)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs376922544...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 06, 2021